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GTR Home > Conditions/Phenotypes > Pili torti-developmental delay-neurological abnormalities syndrome

Pili torti-developmental delay-neurological abnormalities syndrome

Synonyms
Pili torti and developmental delay; Pili torti developmental delay neurological abnormalities

Summary

Abnormal hair, joint laxity, and developmental delay (HJDD) is characterized by normal hair at birth that gradually becomes sparse, twisted, brittle, and easily broken, with pili torti and trichorrhexis nodosa observed on light microscopy. Other features include increased joint mobility and cognitive delay (summary by Sharma et al., 2019). [from OMIM]

Available tests

1 test is in the database for this condition.

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Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HJDD, ZP, HEPHL1
    Summary: hephaestin like 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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